Entity Details

Primary name SC5D_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO75845
EntryNameSC5D_HUMAN
FullNameLathosterol oxidase
TaxID9606
Evidenceevidence at protein level
Length299
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesSC5D

GO terms

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GOName
GO:0000248 C-5 sterol desaturase activity
GO:0005506 iron ion binding
GO:0005789 endoplasmic reticulum membrane
GO:0006629 lipid metabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016126 sterol biosynthetic process
GO:0016491 oxidoreductase activity
GO:0019216 regulation of lipid metabolic process
GO:0033489 cholesterol biosynthetic process via desmosterol
GO:0033490 cholesterol biosynthetic process via lathosterol
GO:0050046 delta7-sterol 5(6)-desaturase activity

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR006694 Fatty acid hydroxylaseDomainDomain

Diseases

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Disease IDSourceNameDescription
607330 OMIMLathosterolosis (LATHOS)An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. The disease is caused by variants affecting the gene represented in this entry.

Interactions

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